肥大性心肌病(HCM)是导致健康青年人猝死的重要原因,在患肥大性心肌病的近一半的家族成员中发现,这种疾病与β-肌球蛋白的重链基因位点(MYH7)有关。近来我们已发现MYH7基因的两种错义突变[第403位的精氨酸被谷氨酰胺(R403Q)取代,第908位的亮氨酸被缬氨酸(L908V)取代],且发现这种突变信号出现在骨骼肌中,并从比目鱼肌中提取出变异的β-肌球蛋白,此种蛋白有异常的 Hypertrophic cardiomyopathy (HCM), an important cause of sudden death in healthy young people, has been found in nearly half of family members with hypertrophic cardiomyopathy and is associated with the myoglobin heavy chain gene locus (MYH7) related. Recently, we have found two missense mutations in the MYH7 gene [arginine at position 403 replaced by glutamine (R403Q), leucine at position 908 replaced by valine (L908V)] and found that Mutational signals appear in skeletal muscle and extract variant β-myosin from the soleus muscle, which is abnormal